Dear Colleague,
the interpretation you requested is ready:
Gene | SLC6A1 |
Mutation (gDNA level) | chr3-11059037-G-A |
Mutation (cDNA level) | c.140G>A |
Reference sequence | NM_003042.3 |
Mutation (protein level) | W47* (p.Trp47*) |
Exon location | exon 3 of 16 |
Amino acid location | aa 47 of 600 |
Associated phenotype | Myoclonic-atonic epilepsy |
Interepretation | very likely pathogenic |
Notes | Pathogenic mutations in this gene have been postulated to result in loss of function. This mutation is likely to result in protein truncation or protein loss due to nonsense-mediated messenger decay. |
References: OMIM 616421
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